By: Miriam, Parent of Mia, a 7 year old with a SETBP1 genetic change
“Take a deep breath, there are many different abilities in this group too, this is a stepping stone of understanding right now, a path to follow, a journey to embark on.”
What is your child’s relationship like with his/her siblings?
Mia adores her siblings. She enjoys snuggling with them and being read to often. She likes riding along in an ATV with our older son!
What does your family do for fun?
We like to go camping and swimming in the pool (It’s an all year privilege here in South Florida). We also love musicals and movies. LEGOLAND isn’t so bad either.
Tell us about the biggest hardship your family faces.
Our biggest challenge has been trying to find our bearings. Between the seizures and now g-tube/GI issues. It has been a challenge to find a new normal. We work on it daily and some days are better than others but we make the most of it that we can.
What about your child puts a smile on your face?
Mia is hilarious! She is curious and mischievous! She will keep you on your toes from sun up to sun down and well past that too!
What motivates you to participate in research?
I would like to make it easier for other families to not only have access to genetic testing but also to information and understanding of what these genetic changes mean to you and your family. That has been a difficulty challenge for us. Having answers but not having any idea what the answers mean really or even where to go from that point.
What have you learned about your child’s condition from other families?
That there are gradients of non-verbal and that it is a work in progress.
If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?
Take a deep breath, there are many different abilities in this group too, this is a stepping stone of understanding right now, a path to follow, a journey to embark on.
What is one question you wish researchers could answer about your child’s genetic change?
Why does Mia present so differently than most of the kids I’m reading about with SETBP1? what is the big difference?
Is there anything else you would like to share with other families?
Thank you for sharing your stories and your fears and challenges. It has made me feel less alone, more understood and has given me great comfort at some very dark moments.